Turkyilmaz, Ayberk

Two Unrelated Witteveen-Kolk Syndrome Patients Presenting with Unusual Clinical Features: Dual Diagnosis and Atypical Rare Manifestation

Genetic heterogeneity in pediatric short stature: insights from whole exome sequencing and snp- array analyses in a Turkish cohort

Genotype, Phenotype Characteristics and Long-Term Follow-Up of Patients with Vitamin D-Dependent Rickets Type IA: A Nationwide Multi-Centre Retrospective Cross-Sectional Study

Coexistence of <i>SRY, DHX37</i> and <i>POR</i> gene variants in a patient with 46,XY disorder of sex development

Gene Panel-Based Genotyping of 279 Turkish Maturity-Onset Diabetes of the Young Patients from Eastern Anatolia

Clinical and genetic characteristics of Turkish pediatric short stature cohort

Severe early-onset obesity and diabetic ketoacidosis due to a novel homozygous c.169C&gt;T p.Arg57*mutation in CEP19 gene

Genotypic Sex and Severity of the Disease Determine the Time of Clinical Presentation in Steroid 17α-Hydroxylase/17,20-Lyase Deficiency

Genotypic Sex and Severity of the Disease Determine the Time of Clinical Presentation in Steroid 17α-Hydroxylase/17,20-Lyase Deficiency

Two novel <i>CYP2R1</i> mutations in a family with vitamin D-dependent rickets type 1b